Notice
- Important: This guidance is under active development by NHS England and content may be added or updated on a regular basis.
- This Implementation Guide is currently in Draft and SHOULD NOT be used for development or active implementation without express direction from the NHS England Genomics Unit.
StructureDefinition Group
For recording patients which are part of a family unit, assigned a Pedigree Number by a clinical genetics service.
Pedigree numbers are generated upon referral of a patient to clinical genetics and are applied to all forms of correspondence from patient letters to genomic orders. These are therefore owned by clinical genetics and referenced back by processing labs.
Some pedigree numbers reference the relationship between the family members to the original proband, other just have a general pedigree number which relates to all family members. There is disparity in approach across the GU.
Patients can multiple pedigree numbers. Single pedigree numbers can also span multiple families with a common patient.
| Profile url | FHIR Module | Normative Status |
|---|---|---|
| http://hl7.org/fhir/StructureDefinition/Group | HL7 International | trial-use |
| Group | C | DomainResource | Element idGroupShort description Group of multiple entities DefinitionRepresents a defined collection of entities that may be discussed or acted upon collectively but which are not expected to act collectively, and are not formally or legally recognized; i.e. a collection of entities that isn't an Organization. If both Group.characteristic and Group.member are present, then the members are the individuals who were found who met the characteristic. It's possible that there might be other candidate members who meet the characteristic and aren't (yet) in the list. All members SHALL have the listed characteristics.
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| id | Σ | 0..1 | string | There are no (further) constraints on this element Element idGroup.idShort description Logical id of this artifact DefinitionThe logical id of the resource, as used in the URL for the resource. Once assigned, this value never changes. The only time that a resource does not have an id is when it is being submitted to the server using a create operation. | ||
| meta | Σ | 0..1 | Meta | There are no (further) constraints on this element Element idGroup.metaShort description Metadata about the resource DefinitionThe metadata about the resource. This is content that is maintained by the infrastructure. Changes to the content might not always be associated with version changes to the resource.
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| implicitRules | Σ ?! | 0..1 | uri | There are no (further) constraints on this element Element idGroup.implicitRulesShort description A set of rules under which this content was created DefinitionA reference to a set of rules that were followed when the resource was constructed, and which must be understood when processing the content. Often, this is a reference to an implementation guide that defines the special rules along with other profiles etc. Asserting this rule set restricts the content to be only understood by a limited set of trading partners. This inherently limits the usefulness of the data in the long term. However, the existing health eco-system is highly fractured, and not yet ready to define, collect, and exchange data in a generally computable sense. Wherever possible, implementers and/or specification writers should avoid using this element. Often, when used, the URL is a reference to an implementation guide that defines these special rules as part of it's narrative along with other profiles, value sets, etc.
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| language | 0..1 | codeBinding | There are no (further) constraints on this element Element idGroup.languageShort description Language of the resource content DefinitionThe base language in which the resource is written. Language is provided to support indexing and accessibility (typically, services such as text to speech use the language tag). The html language tag in the narrative applies to the narrative. The language tag on the resource may be used to specify the language of other presentations generated from the data in the resource. Not all the content has to be in the base language. The Resource.language should not be assumed to apply to the narrative automatically. If a language is specified, it should it also be specified on the div element in the html (see rules in HTML5 for information about the relationship between xml:lang and the html lang attribute). A human language.
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| text | 0..1 | Narrative | There are no (further) constraints on this element Element idGroup.textShort description Text summary of the resource, for human interpretation Alternate namesnarrative, html, xhtml, display DefinitionA human-readable narrative that contains a summary of the resource and can be used to represent the content of the resource to a human. The narrative need not encode all the structured data, but is required to contain sufficient detail to make it "clinically safe" for a human to just read the narrative. Resource definitions may define what content should be represented in the narrative to ensure clinical safety. Contained resources do not have narrative. Resources that are not contained SHOULD have a narrative. In some cases, a resource may only have text with little or no additional discrete data (as long as all minOccurs=1 elements are satisfied). This may be necessary for data from legacy systems where information is captured as a "text blob" or where text is additionally entered raw or narrated and encoded information is added later.
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| contained | 0..* | Resource | There are no (further) constraints on this element Element idGroup.containedShort description Contained, inline Resources Alternate namesinline resources, anonymous resources, contained resources DefinitionThese resources do not have an independent existence apart from the resource that contains them - they cannot be identified independently, and nor can they have their own independent transaction scope. This should never be done when the content can be identified properly, as once identification is lost, it is extremely difficult (and context dependent) to restore it again. Contained resources may have profiles and tags In their meta elements, but SHALL NOT have security labels.
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| extension | C | 0..* | Extension | There are no (further) constraints on this element Element idGroup.extensionShort description Additional content defined by implementations Alternate namesextensions, user content DefinitionMay be used to represent additional information that is not part of the basic definition of the resource. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone. Unordered, Open, by url(Value) Extensions are always sliced by (at least) url Constraints
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| modifierExtension | ?! C | 0..* | Extension | There are no (further) constraints on this element Element idGroup.modifierExtensionShort description Extensions that cannot be ignored Alternate namesextensions, user content DefinitionMay be used to represent additional information that is not part of the basic definition of the resource and that modifies the understanding of the element that contains it and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer is allowed to define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions. Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself). Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions. There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone. Unordered, Open, by url(Value) Extensions are always sliced by (at least) url Constraints
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| identifier | Σ | 0..* | Identifier | Element idGroup.identifierShort description Unique id DefinitionA unique business identifier for this group. Allows the group to be referenced from external specifications. The cardinality or value of this element may be affected by these constraints: ele-1 Constraints
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| active | Σ | 0..1 | boolean | Element idGroup.activeShort description Whether this group's record is in active use DefinitionIndicates whether the record for the group is available for use or is merely being retained for historical purposes. Need to be able to mark a group record as not to be used because it was created in error or is otherwise no longer available (e.g. a herd that no longer exists). This resource is generally assumed to be active if no value is provided for the active element
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| type | Σ | 1..1 | codeBinding | Element idGroup.typeShort description person | animal | practitioner | device | medication | substance DefinitionIdentifies the broad classification of the kind of resources the group includes. Identifies what type of resources the group is made up of. Group members SHALL be of the appropriate resource type (Patient for person or animal; or Practitioner, Device, Medication or Substance for the other types.). Types of resources that are part of group.
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| actual | Σ C | 1..1 | boolean | Element idGroup.actualShort description Descriptive or actual DefinitionIf true, indicates that the resource refers to a specific group of real individuals. If false, the group defines a set of intended individuals. There are use-cases for groups that define specific collections of individuals, and other groups that define "types" of intended individuals. The requirements for both kinds of groups are similar, so we use a single resource, distinguished by this flag. The cardinality or value of this element may be affected by these constraints: grp-1 Constraints
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| code | Σ | 0..1 | CodeableConcept | Element idGroup.codeShort description Kind of Group members DefinitionProvides a specific type of resource the group includes; e.g. "cow", "syringe", etc. This would generally be omitted for Person resources. Kind of particular resource; e.g. cow, syringe, lake, etc. The cardinality or value of this element may be affected by these constraints: ele-1 Constraints
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| name | Σ | 0..1 | string | Element idGroup.nameShort description Label for Group DefinitionA label assigned to the group for human identification and communication. Used to identify the group in human communication. Note that FHIR strings SHALL NOT exceed 1MB in size
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| quantity | Σ | 0..1 | unsignedInt | Element idGroup.quantityShort description Number of members DefinitionA count of the number of resource instances that are part of the group. Group size is a common defining characteristic. Note that the quantity may be less than the number of members if some of the members are not active.
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| managingEntity | Σ C | 0..1 | Reference(Organization | RelatedPerson | Practitioner | PractitionerRole) | Element idGroup.managingEntityShort description Entity that is the custodian of the Group's definition DefinitionEntity responsible for defining and maintaining Group characteristics and/or registered members. This does not strictly align with ownership of a herd or flock, but may suffice to represent that relationship in simple cases. More complex cases will require an extension. Reference(Organization | RelatedPerson | Practitioner | PractitionerRole) ConditionsThe cardinality or value of this element may be affected by these constraints: ele-1 Constraints
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| characteristic | 0..* | BackboneElement | Element idGroup.characteristicShort description Include / Exclude group members by Trait DefinitionIdentifies traits whose presence r absence is shared by members of the group. Needs to be a generic mechanism for identifying what individuals can be part of a group. All the identified characteristics must be true for an entity to a member of the group. The cardinality or value of this element may be affected by these constraints: ele-1 Constraints
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| id | 0..1 | string | There are no (further) constraints on this element Element idGroup.characteristic.idShort description Unique id for inter-element referencing DefinitionUnique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.
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| extension | C | 0..* | Extension | There are no (further) constraints on this element Element idGroup.characteristic.extensionShort description Additional content defined by implementations Alternate namesextensions, user content DefinitionMay be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone. Unordered, Open, by url(Value) Extensions are always sliced by (at least) url Constraints
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| modifierExtension | Σ ?! C | 0..* | Extension | There are no (further) constraints on this element Element idGroup.characteristic.modifierExtensionShort description Extensions that cannot be ignored even if unrecognized Alternate namesextensions, user content, modifiers DefinitionMay be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions. Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself). Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions. There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.
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| code | 1..1 | CodeableConcept | Element idGroup.characteristic.codeShort description Kind of characteristic DefinitionA code that identifies the kind of trait being asserted. Need a formal way of identifying the characteristic being described. Not all terminology uses fit this general pattern. In some cases, models should not use CodeableConcept and use Coding directly and provide their own structure for managing text, codings, translations and the relationship between elements and pre- and post-coordination. List of characteristics used to describe group members; e.g. gender, age, owner, location, etc. The cardinality or value of this element may be affected by these constraints: ele-1 Constraints
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| value[x] | 1..1 | Element idGroup.characteristic.value[x]Short description Value held by characteristic DefinitionThe value of the trait that holds (or does not hold - see 'exclude') for members of the group. The value of the characteristic is what determines group membership. For Range, it means members of the group have a value that falls somewhere within the specified range. Value of descriptive member characteristic; e.g. red, male, pneumonia, Caucasian, etc. The cardinality or value of this element may be affected by these constraints: ele-1 Constraints
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| valueCodeableConcept | CodeableConcept | Data type | ||||
| valueBoolean | boolean | Data type | ||||
| valueQuantity | Quantity | Data type | ||||
| valueRange | Range | Data type | ||||
| valueReference | Reference() | Data type | ||||
| exclude | 1..1 | boolean | Element idGroup.characteristic.excludeShort description Group includes or excludes DefinitionIf true, indicates the characteristic is one that is NOT held by members of the group. Sometimes group membership is determined by characteristics not possessed. This is labeled as "Is Modifier" because applications cannot wrongly include excluded members as included or vice versa.
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| period | C | 0..1 | Period | Element idGroup.characteristic.periodShort description Period over which characteristic is tested DefinitionThe period over which the characteristic is tested; e.g. the patient had an operation during the month of June. A Period specifies a range of time; the context of use will specify whether the entire range applies (e.g. "the patient was an inpatient of the hospital for this time range") or one value from the range applies (e.g. "give to the patient between these two times"). Period is not used for a duration (a measure of elapsed time). See Duration. The cardinality or value of this element may be affected by these constraints: ele-1 Constraints
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| member | C | 0..* | BackboneElement | Element idGroup.memberShort description Who or what is in group DefinitionIdentifies the resource instances that are members of the group. Often the only thing of interest about a group is "who's in it". The cardinality or value of this element may be affected by these constraints: ele-1, grp-1 Constraints
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| id | 0..1 | string | There are no (further) constraints on this element Element idGroup.member.idShort description Unique id for inter-element referencing DefinitionUnique id for the element within a resource (for internal references). This may be any string value that does not contain spaces.
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| extension | C | 0..* | Extension | There are no (further) constraints on this element Element idGroup.member.extensionShort description Additional content defined by implementations Alternate namesextensions, user content DefinitionMay be used to represent additional information that is not part of the basic definition of the element. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone. Unordered, Open, by url(Value) Extensions are always sliced by (at least) url Constraints
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| modifierExtension | Σ ?! C | 0..* | Extension | There are no (further) constraints on this element Element idGroup.member.modifierExtensionShort description Extensions that cannot be ignored even if unrecognized Alternate namesextensions, user content, modifiers DefinitionMay be used to represent additional information that is not part of the basic definition of the element and that modifies the understanding of the element in which it is contained and/or the understanding of the containing element's descendants. Usually modifier elements provide negation or qualification. To make the use of extensions safe and manageable, there is a strict set of governance applied to the definition and use of extensions. Though any implementer can define an extension, there is a set of requirements that SHALL be met as part of the definition of the extension. Applications processing a resource are required to check for modifier extensions. Modifier extensions SHALL NOT change the meaning of any elements on Resource or DomainResource (including cannot change the meaning of modifierExtension itself). Modifier extensions allow for extensions that cannot be safely ignored to be clearly distinguished from the vast majority of extensions which can be safely ignored. This promotes interoperability by eliminating the need for implementers to prohibit the presence of extensions. For further information, see the definition of modifier extensions. There can be no stigma associated with the use of extensions by any application, project, or standard - regardless of the institution or jurisdiction that uses or defines the extensions. The use of extensions is what allows the FHIR specification to retain a core level of simplicity for everyone.
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| entity | C | 1..1 | Reference(Patient | Practitioner | PractitionerRole | Device | Medication | Substance | Group) | Element idGroup.member.entityShort description Reference to the group member DefinitionA reference to the entity that is a member of the group. Must be consistent with Group.type. If the entity is another group, then the type must be the same. References SHALL be a reference to an actual FHIR resource, and SHALL be resolveable (allowing for access control, temporary unavailability, etc.). Resolution can be either by retrieval from the URL, or, where applicable by resource type, by treating an absolute reference as a canonical URL and looking it up in a local registry/repository. Reference(Patient | Practitioner | PractitionerRole | Device | Medication | Substance | Group) ConditionsThe cardinality or value of this element may be affected by these constraints: ele-1 Constraints
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| period | C | 0..1 | Period | Element idGroup.member.periodShort description Period member belonged to the group DefinitionThe period that the member was in the group, if known. Need to track who was in a group at a particular time. A Period specifies a range of time; the context of use will specify whether the entire range applies (e.g. "the patient was an inpatient of the hospital for this time range") or one value from the range applies (e.g. "give to the patient between these two times"). Period is not used for a duration (a measure of elapsed time). See Duration. The member is in the group at this time The cardinality or value of this element may be affected by these constraints: ele-1 Constraints
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| inactive | 0..1 | boolean | Element idGroup.member.inactiveShort description If member is no longer in group DefinitionA flag to indicate that the member is no longer in the group, but previously may have been a member. Sometimes you don't know when someone stopped being in a group, but not when. Members are considered active unless explicitly specified otherwise
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| FHIR | MDS | HL7v2 |
|---|---|---|
| Group.identifier | Patient - Pedigree/Family Identifier | Additional identifiers under PID-3 (TBC) |
Additional Guidance
identifier
SHALL be present. The Pedigree Number assigned by the clinical genetics service. The central pedigree NamingSystem SHOULD be used to support cross region sharing of pedigree/family unit information."identifier": [ { "system": "https://fhir.nhs.uk/Id/genomics-pedigree-number", "value": "P12345" } ],
type
For Pedigrees a fixed value of "person" SHALL be used"type": "person",
actual
For Pedigrees a fixed value of true SHALL be used"actual": true,
member
SHALL be present. `entity` SHOULD be a reference to a Patient resource within the GOMS infrastructure or a unique identifier where this is not possible. `period` SHOULD record the date the member was added to the Group. `inactive` MAY be used to record entities which are no longer members of the group, though if an individual was added to a Group in error and should never have been part of the group, the entity SHALL be removed entirely."member": [ { "entity": { "reference": "Patient/Patient-PheobeSmitham-Example" }, "period": { "start": "2023-10-01" } }, { "entity": { "reference": "Patient/Patient-PheobeSmithamFather-Example" }, "period": { "start": "2023-10-01" } }, { "entity": { "reference": "Patient/Patient-PheobeSmithamMother-Example" }, "period": { "start": "2025-10-01", "end": "2025-10-01" }, "inactive": true } ]